A case of concurrent malnutrition in maple syrup urine disease: challenges and solutions in Indonesia

Maple syrup urine disease (MSUD) is a rare autosomal recessive inborn error of metabolism characterised by the impaired breakdown of branched-chain amino acids. Detecting MSUD in newborns is challenging due to the lack of distinctive signs, especially in resource-limited settings like Indonesia.

A 2-year-old boy presented to the paediatric metabolic clinic with inactivity, a history of uncontrolled epilepsy, global developmental delay and moderate malnutrition. He was born at 40 weeks of gestation, weighing 3100 g, to consanguineous parents. The patient faced feeding problems and was lethargic after birth, with recurrent episodes of generalised seizure and spasticity. Diagnosed with MSUD at four months, the initial response to thiamine supplementation and MSUD Anamix formula was positive. However, weight loss occurred after switching to unregulated family food, as MSUD-specific infant formula became inaccessible and unsustainable due to high costs for the caregivers. Upon compliance with nutritional advice, the child regained weight and progressed appropriately for his age.

Inborn errors of metabolism like MSUD should be considered in atypical disease presentations. In resource-limited settings, management should be tailored to local product availability and accessibility to ensure effective care.